familial Mediterranean fever
Also written as: FMF — familial Mediterranean fever
A hereditary autoinflammatory disorder causing recurrent episodes of fever and serositis, most common in Mediterranean populations.
Full Definition
Familial Mediterranean fever (FMF) is the most common hereditary periodic fever syndrome, caused by mutations in the MEFV gene encoding the protein pyrin. The condition primarily affects individuals of Mediterranean ancestry, including Sephardic Jews, Armenians, Turks, and Arabs. Typical episodes last 12-72 hours and feature high fever accompanied by peritonitis, pleuritis, arthritis, or erysipelas-like skin lesions. Between attacks, children are completely asymptomatic. The major long-term complication is amyloidosis, particularly affecting the kidneys. Diagnosis is confirmed through genetic testing, and treatment with colchicine is highly effective in preventing attacks and amyloidosis. Early diagnosis and treatment are crucial for preventing serious complications.
Usage
Usage note: Capitalize 'Mediterranean'; emphasize genetic basis and ethnic predisposition.
In Context
- "The child's Sephardic ancestry and recurrent peritonitis episodes suggested familial Mediterranean fever." — Clinical assessment
- "Genetic testing revealed compound heterozygous MEFV mutations confirming familial Mediterranean fever diagnosis." — Genetic counseling report